YAP insertion signature in South Asia

Ann Hum Biol. Sep-Oct 2007;34(5):582-6. doi: 10.1080/03014460701556262.


A total of 2169 samples from 21 tribal populations from different regions of India were scanned for the Y-chromosome Alu polymorphism. This study reports, for the first time, high frequencies (8-65%) of Y Alu polymorphic (YAP) insertion in northeast Indian tribes. All seven Jarawa samples from the Andaman and Nicobar islands had the YAP insertion, in conformity with an earlier study of Andaman Islanders. One isolated case with haplotype E* was found in Dungri Bhill, a western Indian population, while YAP insertion in northeast India and Andaman tribes was found in association with haplotype D* (M168, M174). YAP insertion frequencies reported in the mainland Indian populations are negligible, according to previous studies. Genetic drift may be the causative factor for the variable frequency of the YAP insertion in the mainland populations, while the founder effect may have resulted in the highest incidence of haplotype D among the Andaman Islanders. The results of YAP insertion and the evidence of previous mtDNA studies indicate an early out of Africa migration to the Andaman and Nicobar Islands. The findings of YAP insertion in northeast Indian tribes are very significant for understanding the evolutionary history of the region.

MeSH terms

  • Africa
  • Alleles
  • Alu Elements*
  • Asian Continental Ancestry Group / ethnology*
  • Asian Continental Ancestry Group / genetics*
  • Chromosomes, Human, Y*
  • DNA, Mitochondrial / blood
  • Emigration and Immigration
  • Ethnic Groups / ethnology
  • Founder Effect
  • Genetic Drift*
  • Genetics, Population
  • Haplotypes
  • Humans
  • India
  • Mutagenesis, Insertional / statistics & numerical data
  • Phylogeny
  • Polymorphism, Genetic*


  • DNA, Mitochondrial